A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism

Genet Couns. 2012;23(2):263-7.

Abstract

We report an 11year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Palsy / genetics*
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7 / genetics*
  • Epilepsy / genetics
  • Facial Bones / abnormalities*
  • Female
  • Gene Duplication / genetics*
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Williams Syndrome / genetics*